Ano-genital Granulomatosis and Crohn's Disease: A Case Series of Males Presenting with Genital Lymphoedema

J Crohns Colitis. 2017 Apr 1;11(4):454-459. doi: 10.1093/ecco-jcc/jjw173.

Abstract

Background and aims: Ano-genital granulomatosis is a rare chronic granulomatous condition of the skin that causes lymphoedema of the external genitalia. There is a reported association with Crohn's disease. Mechanisms of disease and optimal methods of treatment are poorly understood.

Methods: A retrospective casenote review of 25 male patients with ano-genital granulomatosis presenting with genital lymphoedema was performed to determine the clinical and histopathological features of this condition and its relationship to intestinal Crohn's disease.

Results: A combination of penile and scrotal oedema was reported at presentation in 80% of patients; 40% of patients had associated intestinal Crohn's disease. The average time from symptom onset to diagnosis was 52.7 months. Half of cutaneous biopsies contained non-caseating granulomas and 14% contained intralymphatic granulomas. In all, 72% of patients responded to oral steroids initially but recurrence was common. Complete or partial response was achieved in 60% of patients treated with azathioprine. Three of six patients responded to anti-tumour necrosis factor [TNF] therapy. A small proportion of patients required circumcision or de-bulking surgery for more debilitating disease.

Conclusions: Ano-genital granulomatosis is a rare condition that presents with genital lymphoedema, and there is frequently a protracted delay in diagnosis. There is a very strong association with intestinal Crohn's disease. Genital lymphoedema associated with gastrointestinal symptoms should prompt careful evaluation to exclude both ano-genital granulomatosis and Crohn's disease.

Keywords: Ano-genital granulomatosis; Crohn’s disease; lymphoedema.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Anus Diseases / complications*
  • Anus Diseases / drug therapy
  • Azathioprine / therapeutic use
  • Child
  • Crohn Disease / complications*
  • Crohn Disease / drug therapy
  • Genital Diseases, Male / complications*
  • Genital Diseases, Male / drug therapy
  • Granuloma / complications*
  • Granuloma / drug therapy
  • Humans
  • Immunosuppressive Agents / therapeutic use
  • Lymphedema / complications*
  • Lymphedema / drug therapy
  • Male
  • Middle Aged
  • Penile Diseases / complications
  • Penile Diseases / drug therapy
  • Retrospective Studies
  • Scrotum
  • Tumor Necrosis Factor-alpha / antagonists & inhibitors
  • Young Adult

Substances

  • Immunosuppressive Agents
  • Tumor Necrosis Factor-alpha
  • Azathioprine